Protein-coding gene in the species Homo sapiens
SASS6 |
---|
|
Identifiers |
---|
Aliases | SASS6, SAS-6, SAS6, MCPH14, SAS-6 centriolar assembly protein |
---|
External IDs | OMIM: 609321; MGI: 1920026; HomoloGene: 45668; GeneCards: SASS6; OMA:SASS6 - orthologs |
---|
Gene location (Human) |
---|
| Chr. | Chromosome 1 (human)[1] |
---|
| Band | 1p21.2 | Start | 100,083,563 bp[1] |
---|
End | 100,132,955 bp[1] |
---|
|
Gene location (Mouse) |
---|
| Chr. | Chromosome 3 (mouse)[2] |
---|
| Band | 3|3 G1 | Start | 116,388,631 bp[2] |
---|
End | 116,424,653 bp[2] |
---|
|
RNA expression pattern |
---|
Bgee | Human | Mouse (ortholog) |
---|
Top expressed in | - oocyte
- secondary oocyte
- testicle
- gonad
- ventricular zone
- ganglionic eminence
- Achilles tendon
- endothelial cell
- rectum
- appendix
|
| Top expressed in | - spermatid
- spermatocyte
- genital tubercle
- tail of embryo
- Paneth cell
- seminiferous tubule
- ventricular zone
- gray matter layer of cerebellum
- granulocyte
- maxillary prominence
|
| More reference expression data |
|
---|
BioGPS | |
---|
|
Gene ontology |
---|
Molecular function | | Cellular component | - cytoplasm
- centriole
- cytoskeleton
- deuterosome
- microtubule organizing center
- cytosol
- centrosome
| Biological process | - cell cycle
- centriole replication
- centrosome duplication
| Sources:Amigo / QuickGO |
|
Orthologs |
---|
Species | Human | Mouse |
---|
Entrez | | |
---|
Ensembl | | |
---|
UniProt | | |
---|
RefSeq (mRNA) | | |
---|
NM_001289568 NM_001289571 NM_028349 |
|
---|
RefSeq (protein) | | |
---|
NP_001276497 NP_001276500 NP_082625 |
|
---|
Location (UCSC) | Chr 1: 100.08 – 100.13 Mb | Chr 3: 116.39 – 116.42 Mb |
---|
PubMed search | [3] | [4] |
---|
|
Wikidata |
View/Edit Human | View/Edit Mouse |
|
Spindle assembly abnormal protein 6 homolog (SAS-6) is a protein that in humans is encoded by the SASS6 gene.[5][6][7]
Function
SAS-6 is necessary for centrosome duplication and functions during procentriole formation; SAS-6 functions to ensure that each centriole seeds the formation of a single procentriole per cell cycle.[8]
Clinical significance
Mutations in SASS6 are associated to MCPH.[9]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000156876 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027959 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: spindle assembly 6 homolog (C. elegans)".
- ^ Andersen JS, Wilkinson CJ, Mayor T, Mortensen P, Nigg EA, Mann M (December 2003). "Proteomic characterization of the human centrosome by protein correlation profiling". Nature. 426 (6966): 570–4. Bibcode:2003Natur.426..570A. doi:10.1038/nature02166. PMID 14654843. S2CID 4427303.
- ^ Leidel S, Delattre M, Cerutti L, Baumer K, Gönczy P (February 2005). "SAS-6 defines a protein family required for centrosome duplication in C. elegans and in human cells". Nat. Cell Biol. 7 (2): 115–25. doi:10.1038/ncb1220. PMID 15665853. S2CID 4634352.
- ^ Strnad P, Leidel S, Vinogradova T, Euteneuer U, Khodjakov A, Gönczy P (August 2007). "Regulated HsSAS-6 levels ensure formation of a single procentriole per centriole during the centrosome duplication cycle". Dev. Cell. 13 (2): 203–13. doi:10.1016/j.devcel.2007.07.004. PMC 2628752. PMID 17681132.
- ^ Khan, M. A.; Rupp, V. M.; Orpinell, M; Hussain, M. S.; Altmüller, J; Steinmetz, M. O.; Enzinger, C; Thiele, H; Höhne, W; Nürnberg, G; Baig, S. M.; Ansar, M; Nürnberg, P; Vincent, J. B.; Speicher, M. R.; Gönczy, P; Windpassinger, C (2014). "A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family". Human Molecular Genetics. 23 (22): 5940–9. doi:10.1093/hmg/ddu318. PMID 24951542.
Further reading
- Dammermann A, Müller-Reichert T, Pelletier L, et al. (2004). "Centriole assembly requires both centriolar and pericentriolar material proteins". Dev. Cell. 7 (6): 815–29. doi:10.1016/j.devcel.2004.10.015. PMID 15572125.
- Kleylein-Sohn J, Westendorf J, Le Clech M, et al. (2007). "Plk4-induced centriole biogenesis in human cells". Dev. Cell. 13 (2): 190–202. doi:10.1016/j.devcel.2007.07.002. PMID 17681131.
- Habedanck R, Stierhof YD, Wilkinson CJ, Nigg EA (2005). "The Polo kinase Plk4 functions in centriole duplication". Nat. Cell Biol. 7 (11): 1140–6. doi:10.1038/ncb1320. PMID 16244668. S2CID 1349505.
- Lunardi A, Di Minin G, Provero P, et al. (2010). "A genome-scale protein interaction profile of Drosophila p53 uncovers additional nodes of the human p53 network". Proc. Natl. Acad. Sci. U.S.A. 107 (14): 6322–7. Bibcode:2010PNAS..107.6322L. doi:10.1073/pnas.1002447107. PMC 2851947. PMID 20308539.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Sowa ME, Bennett EJ, Gygi SP, Harper JW (2009). "Defining the human deubiquitinating enzyme interaction landscape". Cell. 138 (2): 389–403. doi:10.1016/j.cell.2009.04.042. PMC 2716422. PMID 19615732.
- Tang CJ, Fu RH, Wu KS, et al. (2009). "CPAP is a cell-cycle regulated protein that controls centriole length". Nat. Cell Biol. 11 (7): 825–31. doi:10.1038/ncb1889. PMID 19503075. S2CID 7478662.
- Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
| This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it. |